JSON

All terms in MONDO

Label Id Description
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO_0014206
Kleefstra syndrome due to a point mutation MONDO_0016865
Kleefstra syndrome MONDO_0012455
partial deletion of chromosome 1 MONDO_0016866
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MONDO_0014205
familial adenomatous polyposis due to 5q22.2 microdeletion MONDO_0016860
Alagille syndrome due to 20p12 microdeletion MONDO_0016861
Alagille syndrome MONDO_0007318
Alagille syndrome due to a JAG1 point mutation MONDO_0016862
aldosterone-producing adenoma with seizures and neurological abnormalities MONDO_0014200
tuberculous oophoritis MONDO_0002226
total central choroidal atrophy MONDO_0004889
choroideremia MONDO_0010557
partial circumpapillary choroid dystrophy MONDO_0004888
hereditary choroidal atrophy MONDO_0004883
ovarian lymphoma MONDO_0002227
obsolete malignant ovarian surface epithelial-stromal neoplasm MONDO_0002228
urethra leiomyoma MONDO_0002222
ovarian malignant mesothelioma MONDO_0002223
obsolete polyarteritis nodosa MONDO_0004887